Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3

Bürk, Katrin; Globas, Christoph; Bösch, Sylvia; Klockgether, Thomas; Zühlke, Christine; Daum, Irene; Dichgans, J.

doi:10.1007/s00415-003-0976-5

Cited by 201 publications

(183 citation statements)

References 35 publications

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“…In this regard, the cognitive phenotype of FXTAS is similar to that of several of the spinocerebellar ataxias, the frontal variant of frontotemporal dementia, Parkinson disease, multiple system atrophy, and other subcortical dementias (e.g., Bak, Crawford, Hearn, Mathuranath, & Hodges, 2005;Burk et al, 2003;Dubois & Pillon, 2002;Kertesz, McMonagle, Blair, Davidson, & Munoz, 2005;Liu et al, 2004;McKhann et al, 2001;O'Hearn, Holmes, Calvert, Ross, & Margolis, 2001;Robbins et al, 1992;Schelhaas & van de Warrenburg, 2005). Viewed from the perspective of Fuster's model of executive functioning, FXTAS is marked especially by deficits in behavioral self-regulation (including disinhibition), working memory, and control of attention.…”

Section: Contribution Of Ecf Deficits To Impairment In Non-executive mentioning

confidence: 92%

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome

Brega

Goodrich

Bennett

et al. 2008

Journal of Clinical and Experimental Neuropsychology

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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation trinucleotide repeat expansion in the fragile X mental retardation 1 gene (FMR1). Symptoms include gait ataxia, action tremor, and cognitive impairment. The objectives of the study were to clarify the nature of the dysexecutive syndrome observed in FXTAS and to assess the contribution of executive impairment to deficits in nonexecutive cognitive functions. Compared to controls, men with FXTAS demonstrated significant executive impairment, which was found to mediate group differences in most other cognitive abilities. Asymptomatic premutation carriers performed similarly to controls on all but two measures of executive functioning. These findings suggest that the impairment of non-executive cognitive skills in FXTAS is in large part secondary to executive dysfunction.

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Section: Contribution Of Ecf Deficits To Impairment In Non-executive mentioning

confidence: 92%

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome

Brega

Goodrich

Bennett

et al. 2008

Journal of Clinical and Experimental Neuropsychology

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“…For instance, Bürk et al (1999) found that even the demented subset of their German spinocerebellar ataxia (SCA) 2 patients was only slightly lowered (4.8 +/− 1) relative to the controls (6.1 +/− 1), whereas their non-demented SCA2 patients did not differ significantly from controls (5.9 +/− 1.3). Other studies have similarly reported digit spans in the low-normal to normal range with no statistical differences between patients and controls (e.g., Bracke-Tolkmitt et al, 1989;Fiez et al, 1992;Schmahmann & Sherman, 1998;Le Pira et al, 2002;Timmann et al, 2002;Bürk et al, 2003;Globas et al, 2003;Fabbro et al, 2004). Those studies that have reported digit spans to be reduced (e.g., Akshoomoff et al, 1992;Schelhaas et al, 2001), even when significantly reduced relative to controls (e.g., Witt et al, 2002; Ravizza et al, 2004, submitted; Maddox et al., in press), typically report a reduction of only one or two items from the normal range.…”

mentioning

confidence: 88%

Reduced phonological similarity effects in patients with damage to the cerebellum

et al. 2005

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Ten cerebellar patients were compared to ten control subjects on a verbal working memory task in which the phonological similarity of the words to be remembered and their modality of presentation were manipulated. Cerebellar patients demonstrated a reduction of the phonological similarity effect relative to controls. Further, this reduction did not depend systematically upon the presentation modality. These results first document that qualitative differences in verbal working memory may be observed following cerebellar damage, indicating altered cognitive processing, even though behavioral output as measured by the digit span may be within normal limits. However, the results also present problems for the hypothesis that the cerebellar role is specifically associated with articulatory rehearsal as conceptualized in the Baddeley-Hitch model of working memory. Keywordscerebellum; verbal working memory; speech perception; language; cognition; short-term memory; dysarthria; aphasia Researchers in cognitive neuroscience have in many cases looked to converging data from multiple methodologies when investigating a cognitive process of interest. The complementary perspectives of functional neuroimaging and cognitive neuropsychology are often employed in this regard; a strong case can be made for the involvement of a brain region in a given cognitive process when it is both metabolically active when healthy participants engage in the cognitive process, and when damage to this region disrupts the same cognitive process. Although the precise nature of this involvement may prove elusive to characterize, the brain region comes to be regarded as an essential component of the system in question. When the two methodologies of neuroimaging and neuropsychology do not converge, however, even the most basic question of whether a given region is involved in a cognitive process is difficult to address.One issue that must be kept in mind when making comparisons between data from neuroimaging and data from neuropsychology is that the two methods provide very different kinds of evidence about cognition. Neuroimaging studies have the potential to document qualitative aspects of cognitive processing that may not be evident from the behavioral outcome. In contrast, neuropsychological data -particularly that from standardized batteries that examine for gross impairment across a wide range of cognitive tasks -sometimes do not NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript allow for such an observation. Identical behavioral outcomes may become falsely equated with identical cognitive processes, when this most certainly is not always the case. 1 Neuropsychological studies must be designed such that the relevant qualitative as well as quantitative differences in a cognitive process may be observed.A relative lack of convergence in the neuroimaging and neuropsychological literatures was a part of the motivation for the current study, which investigated the verbal working memory abilities of patients with damage...

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“…Test performance was not related to either trinucleotide repeat length or disease duration. A comparison of cognitive dysfunction among SCA1, SCA2 and SCA3 patients revealed that executive dysfunction was more prominent in SCA1 patients compared with other SCA types [12]. It was also reported that depressive and memory symptoms were found in 25 and 42% of SCA1 patients, respectively [13].…”

Section: Spinocerebellar Ataxia Typementioning

confidence: 99%

Cognitive Impairment in Spinocerebellar Degeneration

et al. 2009

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It has been reported that patients with spinocerebellar degenerations (SCDs) have cognitive dysfunction as well as limb and truncal ataxia, dysarthria and dysphagia. We review cognitive dysfunction in common types of SCD, including spinocerebellar ataxia types 1, 2, 3, 6, and 17, dentatorubral-pallidoluysian atrophy, Friedreich’s ataxia, and multiple system atrophy. There are few studies that address cognitive function in SCD. Although there are few comparison studies among the various SCDs, cognitive dysfunction may be more common and severe in spinocerebellar ataxia type 17 and dentatorubral-pallidoluysian atrophy. While cognitive dysfunction in SCD appears to represent frontal dysfunction, the mechanisms of cognitive dysfunction have not been directly clarified. Nevertheless, various lesions, including those in the cerebrocerebellar circuitry, cortico-striatal-thalamocortical circuitry, and the frontal lobe, may influence cognitive function to various degrees for each disease.

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Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3

Cited by 201 publications

References 35 publications

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome

Reduced phonological similarity effects in patients with damage to the cerebellum

Cognitive Impairment in Spinocerebellar Degeneration

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